rs786204541
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (GT;GT) | 0 | common in clinvar |
| Make rs786204541(CC;CC) |
| Make rs786204541(CC;GT) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 17 |
| Position | 3648936 |
| Gene | CTNS, LOC105371493 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204541 |
| dbSNP (classic) | rs786204541 |
| ClinGen | rs786204541 |
| ebi | rs786204541 |
| HLI | rs786204541 |
| Exac | rs786204541 |
| Gnomad | rs786204541 |
| Varsome | rs786204541 |
| LitVar | rs786204541 |
| Map | rs786204541 |
| PheGenI | rs786204541 |
| Biobank | rs786204541 |
| 1000 genomes | rs786204541 |
| hgdp | rs786204541 |
| ensembl | rs786204541 |
| geneview | rs786204541 |
| scholar | rs786204541 |
| rs786204541 | |
| pharmgkb | rs786204541 |
| gwascentral | rs786204541 |
| openSNP | rs786204541 |
| 23andMe | rs786204541 |
| SNPshot | rs786204541 |
| SNPdbe | rs786204541 |
| MSV3d | rs786204541 |
| GWAS Ctlg | rs786204541 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs786204541(CC;CC) |
| Alt | rs786204541(CC;CC) |
| Reference | Rs786204541(GT;GT) |
| Significance | Probable-Pathogenic |
| Disease | Nephropathic cystinosis |
| Variation | info |
| Gene | CTNS |
| CLNDBN | Nephropathic cystinosis |
| Reversed | 0 |
| HGVS | NC_000017.10:g.3552230_3552231delGTinsCC |
| CLNSRC | |
| CLNACC | RCV000169252.1, |
